Patient characteristics
| . | Total (N = 32) . | Syndromic features . | P value . | |
|---|---|---|---|---|
| No (n = 20) . | Yes (n = 12) . | |||
| Gender, male, n (%) | 18 (56) | 13 (65) | 5 (42) | |
| Age at diagnosis, median (range), mo | 8 (0-120) | 19 (0-120) | 6 (0-60) | .225 |
| Mutation, n (%) | .089 | |||
| c.3G>A; p.Met1 | 9 (28) | 8 (40) | 1 (8) | |
| c.63G>T; p.Glu21Asp | 8 (25) | 5 (25) | 3 (25) | |
| c130c>T; p.His44 Tyr | 5 (16) | 2 (10) | 3 (25) | |
| c.40G>A; p.Gly14Ser | 2 (6) | 2 (10) | 0 (0) | |
| c.485A>G; p.Gln162Arg | 2 (6) | 0 (0) | 2 (17) | |
| c.35_43delCCGACGGCA; p.Thr12_Gly14 | 1 (3) | 0 (0) | 1 (8) | |
| c. 297C>G p. Tyr99∗ | 1 (3) | 1 (5) | 0 (0) | |
| c. 59G>A p. Arg20Glu/ c.59G > A; p.R20Q | 3 (9) | 2 (10) | 1 (8) | |
| c.330_331delTT; p.Ser111Hisfs∗72 | 1 (3) | 0 (0) | 1 (8) | |
| Neutrophil counts at diagnosis | .383 | |||
| Median (range), count/μl | 303 (100-2600) | 340 (100-2600) | 295 (100-1170) | |
| Neutrophils <500, n (%) | 22 (71) | 13 (68) | 9 (75) | .694 |
| Not available | 1 | 1 | 0 | |
| Mild infections, n (%) | 32 (100) | 20 (100) | 12 (100) | |
| Severe Infections, n (%) | 21 (66) | 10 (50) | 11 (92) | .016 |
| Bone metabolism disorder, n (%) | 8 (25) | 3 (15) | 5 (42) | .092 |
| Developmental delay, n (%) | 7 (22) | 0 (0) | 7 (58) | <.001 |
| Malignancy, n (%) | 1 (3) | 0 (0) | 1 (8) | .190 |
| G-CSF treatment, n (%) | ||||
| Never required | 2 (6) | 2 (11) | 0 (0) | |
| Start treatment | 29 (91) | 17 (85) | 12 (100) | |
| Not available | 1 | 1 | 0 | |
| HSCT, n (%) | 6 (19) | 3 (15) | 3 (25) | .483 |
| Age at last FU, median (range), mo | 192 (0-804) | 162 (43-804) | 192 (0-348) | .484 |
| . | Total (N = 32) . | Syndromic features . | P value . | |
|---|---|---|---|---|
| No (n = 20) . | Yes (n = 12) . | |||
| Gender, male, n (%) | 18 (56) | 13 (65) | 5 (42) | |
| Age at diagnosis, median (range), mo | 8 (0-120) | 19 (0-120) | 6 (0-60) | .225 |
| Mutation, n (%) | .089 | |||
| c.3G>A; p.Met1 | 9 (28) | 8 (40) | 1 (8) | |
| c.63G>T; p.Glu21Asp | 8 (25) | 5 (25) | 3 (25) | |
| c130c>T; p.His44 Tyr | 5 (16) | 2 (10) | 3 (25) | |
| c.40G>A; p.Gly14Ser | 2 (6) | 2 (10) | 0 (0) | |
| c.485A>G; p.Gln162Arg | 2 (6) | 0 (0) | 2 (17) | |
| c.35_43delCCGACGGCA; p.Thr12_Gly14 | 1 (3) | 0 (0) | 1 (8) | |
| c. 297C>G p. Tyr99∗ | 1 (3) | 1 (5) | 0 (0) | |
| c. 59G>A p. Arg20Glu/ c.59G > A; p.R20Q | 3 (9) | 2 (10) | 1 (8) | |
| c.330_331delTT; p.Ser111Hisfs∗72 | 1 (3) | 0 (0) | 1 (8) | |
| Neutrophil counts at diagnosis | .383 | |||
| Median (range), count/μl | 303 (100-2600) | 340 (100-2600) | 295 (100-1170) | |
| Neutrophils <500, n (%) | 22 (71) | 13 (68) | 9 (75) | .694 |
| Not available | 1 | 1 | 0 | |
| Mild infections, n (%) | 32 (100) | 20 (100) | 12 (100) | |
| Severe Infections, n (%) | 21 (66) | 10 (50) | 11 (92) | .016 |
| Bone metabolism disorder, n (%) | 8 (25) | 3 (15) | 5 (42) | .092 |
| Developmental delay, n (%) | 7 (22) | 0 (0) | 7 (58) | <.001 |
| Malignancy, n (%) | 1 (3) | 0 (0) | 1 (8) | .190 |
| G-CSF treatment, n (%) | ||||
| Never required | 2 (6) | 2 (11) | 0 (0) | |
| Start treatment | 29 (91) | 17 (85) | 12 (100) | |
| Not available | 1 | 1 | 0 | |
| HSCT, n (%) | 6 (19) | 3 (15) | 3 (25) | .483 |
| Age at last FU, median (range), mo | 192 (0-804) | 162 (43-804) | 192 (0-348) | .484 |
P values were determined using Fisher exact test or the Wilcoxon-Mann-Whitney test, as appropriate.
FU, follow-up.